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International Journal of Advanced Paediatrics

Volume 1, Issue 1, 2016
Mcmed International
International Journal of Advanced Paediatrics
Issn
XXX-XXXX (Print), XXXX-XXXX (Online)
Frequency
bi-annual
Email
editorijap@mcmed.us
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Abstract
Title
NEPHROTIC SYNDROME AS A MANIFESTATION OF GALACTOSEMIA
Author
Dganit Adam, Ze'ev Korzets, Giulia Pula, Yosef Merzel, Tomer Itzhaki, Meidad Greenberg , Roxana Kleper, Galit Pomeranz andAvishalom Pomeranz
Email
avip2@clalit.org.il
keyword
Nephrotic syndrome, Galactosemi.
Abstract
Galactosemia is an inborn genetic metabolic disorder which leads to the infant's inability to properly metabolize galactose.It is inherited in an autosomal recessive manner. Affected infants present shortly after birth when fed with milk products, (either breast milk or milk containing formula) as lactose is degraded by lactase into glucose and galactose.Galactose is then converted to glucose by the action of three enzymes. Deficiency of each one of these enzymes results in the three forms of galactosemia. Accumulation of toxic levels of galactose-1-phosphate in various tissues as in classic galactosemiaresults in the infant's presentation with multiple clinical features. These include hepatomegaly, cirrhosis, cataracts, failure to thrive, vomiting,hypoglycemia and central nervous system manifestations.The commonest renal injury in galactosemia is the Fanconi syndrome.Thus, aminoaciduria is frequently found.However, to the best of our knowledge, the occurrence of a nephrotic syndrome in galactosemiahas not been previously described. We present a case of galactosemia diagnosed at 20 days of age in a female infant who developed a nephrotic syndrome as part of her clinical spectrum. Upon appropriate dietary treatment, (lactose free diet), the nephrotic syndrome regressed.
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